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Allele : Gabra2<C57BL/6J> gamma-aminobutyric acid type A receptor subunit alpha 2; C57BL/6J variant

Primary Identifier  MGI:6381624 Allele Type  Spontaneous
Attribute String  Hypomorph Gene  Gabra2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  This is spontaneous intronic single nucleotide deletion (a shortening of the homopolymer stretch of AAAA to AAA at Chr5:71,014,639-641 (GRCm38)). It is near a spice acceptor site and causes a substantial decrease in expression at the mRNA and protein levels in homozygous brain, with additional decreases in Gabra1, Gabra3, and Gabra5 transcripts in striatum This allele can be phenoytpically reversed entirely by the correction of this intronic point deletion (see Gabra2C57BL/6J+em1Geh).
  • mutations:
  • Single point mutation
  • synonyms:
  • Gabra2<B6J>,
  • Gabra2<B6J>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

19 Publication categories